Genetics

Clinical genetics

Cook Children's clinical genetics offers evaluation and diagnosis of genetic disorders, as well as assists families with referrals to community resource services. The physicians and staff help patients and their families understand the disorders and related recurrence risks.

Our services

Each human being is made up of a unique set of chemical blueprints that contain our DNA. DNA makes up our genetic code. There are some 25,000 to 35,000 genes in each human being. Genes determine all kinds of things like hair and eye color, height, curly or straight hair, skin tone, and gender. Sometimes there is an error in a gene which can result in a birth defect or health issue. In some cases the genetic error becomes hereditary and can be passed on from parent to child. Knowing if a child's medical problems are genetic, or not, can help caregivers create a more accurate diagnosis and determine the best course of treatment.

We offer a wide array of specialized genetic services, including:

Gathering relevant birth, medical and developmental history of the patient, including their detailed family history

Clinical evaluation by a board certified geneticist

Relevant diagnostic testing

Detailed explanation of the diagnosis, prognosis and treatment options

Discussion of reproductive and recurrence risks

Psychosocial support

Referral to appropriate medical specialists and community resources

Communication with the patient's primary care physician and related specialists

Metabolic genetics

Cook Children's metabolic genetics program offers evaluation and treatment of inherited metabolic conditions to help families understand and cope with their child's diagnosis.

Metabolic disorders can be inherited or acquired. Inherited, or genetic, metabolic disorders are caused by an error in a person's genes. Genetic testing for metabolic disorders result in a more accurate diagnosis and appropriate treatment plan, as well as help patients and families determine the best short- and long-term care.

Our services

From testing and diagnoses to treatment and support, we offer a wide array of services for patients and families, including:

Gathering of relevant birth, medical and developmental history of the patient, as well as a detailed family history

Evaluation by a board-certified geneticist

Ordering of relevant diagnostic tests

Explanation of the diagnosis, prognosis and treatment

Treatment after confirmation of abnormal newborn screening results

Dietary management for metabolic disorders

Explanation of recurrence risk in future children

Psychosocial support

Referral to appropriate community resources

Communication with patient's primary care physician and other specialists